{
  "id": 14119,
  "label": "lymphoproliferative syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013081",
  "properties": {
    "xrefs": [
      "DOID:0060707",
      "GARD:0017979",
      "MEDGEN:765548",
      "MESH:C567815",
      "NANDO:2200734",
      "NCIT:C126344",
      "OMIM:613011",
      "Orphanet:538963",
      "UMLS:C3552634"
    ],
    "synonyms": [
      "ITK deficiency",
      "ITK lymphoproliferative syndrome",
      "LPFS1",
      "lymphoproliferative syndrome 1",
      "lymphoproliferative syndrome caused by mutation in ITK",
      "lymphoproliferative syndrome type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060704",
          "GARD:0020633",
          "MEDGEN:6162",
          "MESH:D008232",
          "NCIT:C9308",
          "OMIMPS:308240",
          "Orphanet:238510",
          "SCTID:277466009",
          "UMLS:C0024314"
        ],
        "synonyms": [
          "lymphoproliferative disorder",
          "lymphoproliferative syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016537"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}